Frequently Asked Questions
What is Down Syndrome?
Down syndrome is a genetic condition caused by the presence of some extra chromosomes in the cells of the body. Down syndrome is not a disease and is not inherited. It happens randomly at conception. Everyone with Down syndrome has some degree of learning disability. Some special physical characteristics are the same in individuals with Down syndrome, and they are more prone to some medical problems. However, the most important thing to remember is that everyone with Down Syndrome is an individual, with strengths and weaknesses that make them who they are.
What does Down syndrome refer to as a genetic condition?
The human body is made up of cells. Each cell is a small factory that produces the material the body needs to develop. All cells contain a nucleolus, in which genes are stored. Genes are grouped into twisted structures of DNA called chromosomes. Usually the nucleus of each cell contains 23 pairs of chromosomes, 23 chromosomes we inherit from the mother and 23 from the father. Individuals with Down syndrome have 47 chromosomes, with an extra pair of 21 chromosomes. This extra genetic material causes Down Syndrome.
How often can Down syndrome occur?
It is believed that individuals with Down syndrome have always existed. It wasn’t until 1866, however, when English doctor John Langdon Down published the description of the condition, which later took his name. In 1959 Professor Jerome Lejeune proved that Down syndrome is a chromosomal disorder. Instead of the 46 chromosomes that should normally be present in each cell, dr. Lejun noticed that individuals with Down syndrome had 47 chromosomes. Later, it was determined that this extra chromosome resulted in some physical characteristics and a different state during the developmental process.
How many types of Down syndrome are there?
There are three types of Down syndrome:
Trisomy 21 – in which all cells have an extra chromosome 21. About 94% of individuals with Down syndrome have this type.
Translocation – in which the extra chromosome 21 is attached to another chromosome. About 2% of individuals with Down syndrome have this type.
Mosaic – in which only some of the cells have chromosome 21. About 2% of individuals with Down syndrome have this type.
How is Down syndrome diagnosed?
The diagnosis of Down syndrome is usually noticed immediately after the child is born because of the physical appearance. There are certain physical characteristics associated with various conditions that may lead parents or doctors to suspect that the child has Down Syndrome.
Some of the features include:
-Low muscle tone leading to hypotonia results.
-A flat facial profile, flat and small nose.
-Eyes, which tilt upwards and protrude with folded skin, which continues vertically between the lid of the inner corner of the eye.
-A small mouth, which makes the tongue look a little big.
-Large space between big toe and second toe.
-Wide hands and small fingers, in which the little finger is bent inward.
-The palm of the hand can only have one dash between it.
-May be below average weight and below average height at birth.
But it can be said that many of these characteristics are generally found in the population. However, a chromosomal test is necessary to be done on the baby before it can be positively diagnosed with this syndrome.
Do individuals with Down syndrome have medical problems?
Several medical problems are common in individuals with Down Syndrome.
These include:
-40-50% of children with Down Syndrome are born with a heart problem and almost half of them need heart surgery.
-A large number of children with Down Syndrome have problems with hearing and vision.
-Thyroid gland disorder.
-Weak immune system.
-Breathing problems, coughs and more frequent colds.
-Blockage of the digestive tract.
However, with advanced medical methods, most of these problems are curable. Also, it is important to point out that some individuals with Down syndrome have no medical problems at all. Advanced methods in recent years have shown that individuals with Down Syndrome are living much longer. The average life expectancy for individuals with Down Syndrome is 60-65 years, but some live longer than that.
How does Down syndrome affect development?
All children diagnosed with Down syndrome have some learning disability. Children with Down syndrome learn how to walk and talk or how to go to the toilet, but they generally learn later than their peers. Early childhood programs, which are now widespread worldwide for children with Down syndrome and learning disabilities, help in all areas of child development. These programs include speech therapy, physical therapy, and home learning programs. Children and adults with Down syndrome can and will continue to learn throughout their lives like the rest of the population. With good medical care and the right levels of support, individuals with Down syndrome can make friends, go to school, get a job and keep it, and most importantly can make decisions about their lives and the future.
Past, present and future; What has the past been like for people with Down Syndrome?
What has the past been like for individuals with Down Syndrome?
At the beginning of the 20th century, legislation was introduced with the addition of thousands of people with learning disabilities to the institution known as the Long Stay Hospital. Parents felt ashamed of their children who had learning disorders and would tell them to push them away and forget about them. Many public attitudes that exist today stem from policies of isolation, which have been continued by successive governments. In 1944 the Education Act set up a process to decide which children could be called educable. Children with Down syndrome were called uneducable. This classification determined that they would spend their lives in institutions or homes with their families who would not be provided with support. In 1971 the page appeared: Better Services for Individuals with Disabilities, which established the long-term closure of hospitals and the provision of services in the community. In the last two decades of the last century legislation was introduced that people with learning disabilities had the right to receive the necessary services and support from their community. This included the right to be educated in schools in the area where they lived.
What is life like now for individuals with Down Syndrome?
In the past, it was believed that there were many things that people with Down Syndrome could not do, when in fact they were never given the opportunity to try. Nowadays these opportunities have been very great for individuals with Down Syndrome. However, there is still a long way to go and work to be done before individuals with Down Syndrome, both children and adults, are given the opportunity to fully participate in every aspect of community life. Currently they can receive developmental, speech, physiotherapy, art and music therapy and many other types of therapy from a very early age and beyond to increase the efficiency and functionality of their family, social group and community life. . Currently, children with the Syndrome can be part of the education system in typical schools, thus being participants with full rights in the educational society through the law of inclusiveness. All this investment at an early age has resulted in many cases of young people with Down syndrome being professionally functional in a given job.
What does the future hold?
There are good hopes that services will continue to improve for individuals with Down Syndrome and that society will fully engage and embrace diversity rather than condemning many people with Down Syndrome and their families by excluding them from their social lives. The integration of individuals into the life of society through their contribution with skills in various practical fields such as cooking, service, gardening, animal care, office, musical skills, painting, acting and many others, is indicative of their ability to being active and productive in society. The growth and improvement of the quality of therapeutic services for people with Down Syndrome have also significantly increased their social skills, especially in increasing their social performance, enabling the efficiency of their social relationships in a work environment or even with a possible romantic relationship. concluding with the creation of a family or long-term relationship. The International Human Rights Project has been successful in tracking chromosome 21. While research still continues on this small set of genes, it is hoped that the future will bring a better explanation of individuals with Down syndrome and why these medical problems occur in individuals with Down syndrome.
Health and Development
Do individuals with Down syndrome have medical problems? Certain medical problems are common in individuals with Down syndrome.
These include:
-40-50% of children with Down Syndrome are born with a heart problem and almost half of them need heart surgery.
-A large number of children with Down Syndrome have problems with hearing and vision.
-Disorder of the thyroid glands.
– Weak immune system.
-Problems with breathing, more frequent coughs and colds.
– Blockage of the digestive tract.
-Usually with advanced medical methods most of these problems are curable.
-Also, it is important to underline that some individuals with Down Syndrome have no medical problems at all.
Advanced methods in recent years have shown that individuals with Down Syndrome are living much longer. The average life expectancy of people with Down syndrome is 60-65 years, but some live longer than that.
How does Down syndrome affect development?
All children diagnosed with Down syndrome have some learning disability. Children with Down syndrome learn how to walk and talk or how to go to the toilet, but they generally learn later than their peers. Early childhood programs, which are now widespread worldwide for children with Down syndrome and learning disabilities, help in all areas of child development. These programs include speech therapy, physical therapy, and home learning programs. Children and adults with Down syndrome can and will continue to learn throughout their lives like the rest of the population. With good medical care and the right levels of support, people with Down syndrome can make friends, go to school, get a job and keep it, and most importantly they can make up their own lives and the future.
Down syndrome, child development
The following information provides an overview of the typical development of children with Down syndrome. As with all children with normal development, even in children with Down syndrome there is an individual variation according to age. Some children have additional medical problems that may affect their slow development. However, everyone continues to develop at their own pace.